G202R (p.Gly202Arg) variant of ABCA3 (Q99758)
G202R (p.Gly202Arg) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Interstitial lung disease due to ABCA3 deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G202R (p.Gly202Arg) variant details
- p.Gly202Arg
- rs751061681
- ClinGen CA7841603
- cosmic curated COSV57049
- ClinVar RCV003559899
- Pathogenic/Likely pathogenic
- Interstitial lung disease due to ABCA3 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.77
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Interstitial lung disease due to ABCA3 deficiency; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available